{ "disease_id": "DOID:0111202", "recommended_name": { "id": "DOID:0111202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111202", "name": "autosomal dominant distal hereditary motor neuronopathy 14", "description": "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1." }, "synonyms": [ { "id": "DOID:0111202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111202", "name": "distal spinal muscular atrophy with vocal cord paralysis type 7B", "description": "" }, { "id": "DOID:0111202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111202", "name": "DHMN7B", "description": "" }, { "id": "DOID:0111202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111202", "name": "HMN VIIB", "description": "" }, { "id": "DOID:0111202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111202", "name": "HMN7B", "description": "" }, { "id": "DOID:0111202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111202", "name": "Harper-Young myopathy", "description": "" }, { "id": "DOID:0111202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111202", "name": "distal hereditary motor neuropathy type VIIB", "description": "" }, { "id": "DOID:0111202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111202", "name": "distal hereditary motor neuronopathy type 7B", "description": "" }, { "id": "MONDO:0011879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011879", "name": "neuronopathy, distal hereditary motor, type 7B", "description": "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene." }, { "id": "MONDO:0011879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011879", "name": "DCTN1 neuronopathy, distal hereditary motor", "description": "" }, { "id": "MONDO:0011879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011879", "name": "neuronopathy, distal hereditary motor caused by mutation in DCTN1", "description": "" }, { "id": "MONDO:0011879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011879", "name": "Dhmn7B", "description": "" }, { "id": "MONDO:0011879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011879", "name": "HMN 7B", "description": "" }, { "id": "MONDO:0011879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011879", "name": "HMN7B", "description": "" }, { "id": "MONDO:0011879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011879", "name": "Lower motor neuron disease, dynactin type", "description": "" }, { "id": "MONDO:0011879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011879", "name": "neuronopathy, distal hereditary motor, type VIIB", "description": "" }, { "id": "MONDO:0011879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011879", "name": "neuropathy, distal hereditary motor, type 7B", "description": "" }, { "id": "MONDO:0011879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011879", "name": "neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B", "description": "" }, { "id": "MIM:607641", "resource": "MIM", "url": "https://www.omim.org/entry/607641", "name": "Neuronopathy, distal hereditary motor, autosomal dominant 14", "description": "Neuronopathy, distal hereditary motor, autosomal dominant 14" } ], "children": [], "id_list": [ "DOID:0111202" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0111202", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111202", "categories": [] }, { "id": "MONDO:0011879", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011879", "categories": [] }, { "id": "MIM:607641", "database": "MIM", "url": "https://www.omim.org/entry/607641", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q7JQV2-1", "uniprot_ac": "Q7JQV2", "uniprot_id": "Q7JQV2_DROME", "refseq_ac": "NP_649124", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Dynactin subunit 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG9279-PC; 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DCTN1-p150-PA; Dynactin1 p150 A; p150-Glued; dynactin; p150glued; dynactin P150; p150[glued]", "resource": "RefSeq", "type": "synonym" }, { "name": "DAP-150", "resource": "UniProtKB", "type": "synonym" }, { "name": "DP-150", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dynactin 1 subunit p150", "resource": "UniProtKB", "type": "synonym" }, { "name": "Protein glued", "resource": "UniProtKB", "type": "synonym" }, { "name": "dynactin 1, p150 subunit", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "DCTN1-p150", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG9206; DCTN; Dctn 1-p150; DCTN-P; Dctn1; DCTN1; Dmel\\CG9206; DYNA_DROME; FCP-D; gl; Gl; Glu; Glued; glued/p150; p150; P150; p150/glued; p150/Glued; P150A; p150[glued]; p150[Glued]; P150[Glued]; t1", "resource": "RefSeq", "type": "synonym" }, { "name": "CG9206", "resource": "UniProtKB", "type": "synonym" }, { "name": "DCTN1-p150", "resource": "RefSeq", "type": "synonym" }, { "name": "Gl", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0111202", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111202" } ] }, { "uniprot_canonical_ac": "O08788-1", "uniprot_ac": "O08788", "uniprot_id": "DCTN1_MOUSE", "refseq_ac": "NP_031861", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dynactin subunit 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "150 kDa dynein-associated polypeptide", "resource": "UniProtKB", "type": "synonym" }, { "name": "DAP-150", "resource": "UniProtKB", "type": "synonym" }, { "name": "DP-150", "resource": "UniProtKB", "type": "synonym" }, { "name": "dynactin subunit 1 isoform 1", "resource": "RefSeq", "type": "synonym" }, { "name": "dynactin subunit 1; 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